Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		0.400 Biomarker CTD_human

Entrez Id: 3293
Gene Symbol: HSD17B3
HSD17B3
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		0.790 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. 15746153

2005
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Autism spectrum features in Smith-Magenis syndrome. 20981775

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. 17273973

2007
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes. 17517686

2007
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 19752160

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human A functional network module for Smith-Magenis syndrome. 19236431

2009
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. 15788730

2005
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407

2010
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. 16845274

2006
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human How much is too much? Phenotypic consequences of Rai1 overexpression in mice. 18285828

2008
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. 15459175

2004
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		0.300 Biomarker CTD_human Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. 19116176

2009
Entrez Id: 133686
Gene Symbol: NADK2
NADK2
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.600 Biomarker CTD_human

Entrez Id: 1666
Gene Symbol: DECR1
DECR1
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		0.500 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015
Entrez Id: 353
Gene Symbol: APRT
APRT
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		0.800 Biomarker CTD_human

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker CTD_human

Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		0.750 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
2-Methylbutyryl-CoA Dehydrogenase Deficiency 		0.700 Biomarker CTD_human

Entrez Id: 2253
Gene Symbol: FGF8
FGF8
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.310 Biomarker CTD_human An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. 12223415

2002
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256

2006
Entrez Id: 3630
Gene Symbol: INS
INS
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		0.300 Therapeutic CTD_human Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial. 18948358

2009
Entrez Id: 3284
Gene Symbol: HSD3B2
HSD3B2
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		0.780 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015
Entrez Id: 549
Gene Symbol: AUH
AUH
CUI: C0342727
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
3-@METHYLGLUTACONIC ACIDURIA, TYPE I 		0.750 Biomarker CTD_human